Correction: Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease (JAMA Neurology DOI: 10.1001/jamaneurol.2014.4496);Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease

JAMA Neurology

Volumn 72, Issue 4, 2015, Pages 441-445

  Orhan Akman, H ^a   Kakhlon, Or ^b   Coku, Jorida ^a   Peverelli, Lorenzo ^a   Rosenmann, Hanna ^b   Rozenstein Tsalkovich, Lea ^b   Turnbull, Julie ^c   Meiner, Vardiella ^b   Chama, Liat ^b   Lerer, Israela ^b   Shpitzen, Shoshi ^d   Leitersdorf, Eran ^b   Paradas, Carmen ^d   Wallace, Mary ^e   Schiffmann, Raphael ^e   DiMauro, Salvatore ^a   Lossos, Alexander ^b   Minassian, Berge A ^c  

^a NewYork Presbyterian Hospital   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^e BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; ADENOSINE; CYTIDINE; GENOMIC DNA; MESSENGER RNA; GBE1 PROTEIN, HUMAN; GLYCOGEN DEBRANCHING ENZYME;

3' UNTRANSLATED REGION; ADULT; ADULT POLYGLUCOSAN BODY DISEASE; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; ASHKENAZI JEW; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA FLANKING REGION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEGRADATION; GBE1 GENE; GENE; GENE ACTIVATION; GENE IDENTIFICATION; GENE LOSS; GENETIC SCREENING; GLYCOGEN METABOLISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INTRON; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVERSE TRANSCRIPTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA STRUCTURE; RNA TRANSCRIPTION; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; GLYCOGEN STORAGE DISEASE; HETEROZYGOTE; HOMOZYGOTE; MUTATION; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; ADULT; ALLELES; BASE SEQUENCE; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRONS; MUTATION; NERVOUS SYSTEM DISEASES; RETROSPECTIVE STUDIES;

EID: 84928104305     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2014.4496     Document Type: Erratum

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